Congenital spinal dysraphism with infected sacrococcygeal sinus tract: need for improved awareness amongst clinicians

Spinal dysraphism (SD) includes a group of developmental anomalies resulting from failure of fusion of parts along dorsal aspect of midline structures lying along spinal axis from skin to vertebrae and spinal cord. There are two types of SD, open and closed. Close SD, also known as spina bifida occulta, can present with diagnostic challenges in resource limited settings where awareness regarding the condition and specialist radiological investigations, including Magnetic Resonance Imaging (MRI), may not be easily available. Undiagnosed cases can potentially lead to long term morbidities. We report the case of a 13-year old boy with closed SD presenting with recurrent infections of the sacrococcygeal sinus tract which were treated with oral antibiotics for what was considered to be localized infection. Following neurosurgical assessment and spinal MRI a diagnosis of SD was made. He underwent surgical excision of the sinus tract and closure of the defect with good outcome. The case emphasizes the need for awareness regarding SD in children who have sinus tracts in the intergluteal fold with symptoms of recurrent discharge and infection.


Introduction
Spinal dysraphism (SD) occurs when there are developmental abnormalities affecting the dorsal median region in embryo, variably involving ectoderm, mesoderm and endoderm, and includes all forms of spina bifida. 1 There are two types of SD: spina bifida occulta, also known as closed SD, and open SD also called spina bifida cystica/aperta. 1 Magnetic resonance imaging (MRI) is currently the investigation of choice for diagnosing spinal dysraphism and for planning surgical management for SD and associated syndromes including Arnold-Chiari known as spina bifida occulta, can present with diagnostic challenges in resource limited settings where awareness regarding the condition and specialist radiological investigations, including Magnetic Resonance Imaging (MRI), may not be easily available. Undiagnosed cases can potentially lead to long term morbidities. We report the case of a 13-year old boy with closed SD presenting with recurrent infections of the sacrococcygeal sinus tract which were treated with oral antibiotics for what was considered to be localized infection.

Case Report
A 13-year-old boy presented to the neurosurgical unit in a specialist hospital in north-eastern India with history of a discharging sinus in the sacrococcygeal region ( Figure 1). His parents reported that from early infancy the boy had occasional discharge from the area which intermittently became red and painful. These episodes were treated with oral antibiotics by a local physician.
He was reported to be doing well both at school and in sports. Parents felt it was necessary to seek specialist advice as his condition was not improving and was affecting his social life and emotional wellbeing.   meningitis. 5 Tethered cord (63%) was the most common MRI finding in this cohort. 5 All patients underwent complete resection of the tract and repair of associated abnormalities and none demonstrated any neurological deterioration postoperatively. 5 A study from India with 21 children (male: female ratio of 13:8) treated for spinal dorsal dermal sinus, most cases (n=15) were aged between 2 and 15 years (mean age = 8.2 years). 6 Lumbar region was the most frequently involved (11 cases) followed by thoracic (n=4), lumbosacral (n=3) and cervical (n=3). 6 All children had neurological deficits detected including 3/21 with acute meningitis who had acute onset paraplegia and intraspinal abscess. 6 Lack of awareness of the varied presentations of SD is one of the important reasons for delayed presentation and diagnosis 2 . In a multi-centre study involving 9 patients from the UK and India, the age at diagnosis varied from 2.5 months to 19 years. 2 The mean duration from first assessment by a medical practitioner (based in the primary care set-up) to correct diagnosis and referral to a neurosurgeon was 5-years (range 2 months to 18 years). 2

MRI remains the investigation of choice and
it is vital that the neurosurgeons liaise with an experienced radiologist to conduct and report the findings. In a recent study from India with 50 children with SD, 34% had type II Arnold-Chiari malformation, spina bifida occulta (22%) and diastematomyelia (18%) were commonly identified anomalies. 1

In conclusion
The boy in our case had all the features of spina bifida OSD with a sinus tract, however delay in diagnosis was primarily due to lack of awareness in the physician treating the patient. The case study also reflects the unexpected diagnostic challenges that may be faced by clinicians working